ea0037ep1214 | Clinical Cases–Pituitary/Adrenal | ECE2015
Lytrivi Maria , Brisbois Denis , Corvilain Bernard , Demetter Pieter , Garcia Camilo , Lucidi Valerio , Moreno-Reyes Rodrigo , Vudu Stella , Duparc Celine , Wils Julien , Lefebvre Herve , Louiset Estelle , Driessens Natacha
ea0057015 | A novel syndrome of neonatal diabetes, microcephaly and epilepsy caused by homozygous mutations in YIPF5 | BES2018
Maria Lytrivi , De Franco Elisa , Kashyap Patel , Mariana Igoillo-Esteve , Matthew Wakeling , Belma Haliloglu , Edip Unal , Tushar Godbole , Melek Yildiz , Sian Ellard , Angeline Bilheu , Pierre Vanderhaeghen , Hattersley Andrew T , Miriam Cnop
ea0071003 | YIPF5 mutations cause diabetes and microcephaly through disrupted endoplasmic reticulum-to-Golgi trafficking Category: translational research | BES2020
Maria Lytrivi , Elisa De Franco , Hazem Ibrahim , Hossam Montaser , Matthew Wakeling , Federica Fantuzzi , Kashyap Patel , Celine Demarez , Ying Cai , Mariana Igoillo-Esteve , Cristina Cosentino , Vaino Lithovius , Helena Vihinen , Eija Jokitalo , Thomas W Laver , Matthew B Johnson , Toshiaki Sawatani , Hadis Shakeri , Nathalie Pachera , Belma Haliloglu , Mehmet Nuri Ozbek , Edip Unal , Ruken Yildirim , Tushar Godbole , Melek Yildiz , Banu Aydin , Angeline Bilheu , Ikuo Suzuki , Sarah E Flanagan , Pierre Vanderhaeghen , Valerie Senee , Cecile Julier , Piero Marchetti , Decio L Eizirik , Sian Ellard , Jonna Saarimaki-Vire , Timo Otonkoski , Andrew T Hattersley , Miriam Cnop